• Gene id: 57153

Gene Summary

• Gene Symbol: SLC44A2   Gene   UCSC   Ensembl
• Aliases: CTL2, PP1292
• Gene name: solute carrier family 44 member 2
• Alternate names: choline transporter-like protein 2, solute carrier family 44 (choline transporter), member 2, testicular tissue protein Li 47,
• Gene location: 19p13.2 (10602454: 10644556)     Exons: 24     NC_000019.10
• OMIM: 604350

Protein Summary

• Protein general information: Q8IWA5  
  • Name: Choline transporter like protein 2 (Solute carrier family 44 member 2)
  • Length: 706  
  • Mass: 80124
  • Tissue specificity: Present in supporting cells of the inner ear (at protein level). Only isoform 3 is expressed in inner ear vestibular tissue. {ECO
• Sequence:

  MGDERPHYYGKHGTPQKYDPTFKGPIYNRGCTDIICCVFLLLAIVGYVAVGIIAWTHGDPRKVIYPTDSRGEFCG
  QKGTKNENKPYLFYFNIVKCASPLVLLEFQCPTPQICVEKCPDRYLTYLNARSSRDFEYYKQFCVPGFKNNKGVA
  EVLQDGDCPAVLIPSKPLARRCFPAIHAYKGVLMVGNETTYEDGHGSRKNITDLVEGAKKANGVLEARQLAMRIF
  EDYTVSWYWIIIGLVIAMAMSLLFIILLRFLAGIMVWVMIIMVILVLGYGIFHCYMEYSRLRGEAGSDVSLVDLG
  FQTDFRVYLHLRQTWLAFMIILSILEVIIILLLIFLRKRILIAIALIKEASRAVGYVMCSLLYPLVTFFLLCLCI
  AYWASTAVFLSTSNEAVYKIFDDSPCPFTAKTCNPETFPSSNESRQCPNARCQFAFYGGESGYHRALLGLQIFNA
  FMFFWLANFVLALGQVTLAGAFASYYWALRKPDDLPAFPLFSAFGRALRYHTGSLAFGALILAIVQIIRVILEYL
  DQRLKAAENKFAKCLMTCLKCCFWCLEKFIKFLNRNAYIMIAIYGTNFCTSARNAFFLLMRNIIRVAVLDKVTDF
  LFLLGKLLIVGSVGILAFFFFTHRIRIVQDTAPPLNYYWVPILTVIVGSYLIAHGFFSVYGMCVDTLFLCFLEDL
  ERNDGSAERPYFMSSTLKKLLNKTNKKAAES

• Structural information:
  • Interpro: IPR007603  
  • STRING: ENSP00000336888
• Other Databases: GeneCards:  SLC44A2  Malacards:  SLC44A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0015220	choline transmembrane transporter activity	IDA	molecular function
GO:0015871	choline transport	IDA	biological process
GO:0055085	transmembrane transport	IDA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0055085	transmembrane transport	IBA	biological process
GO:0015220	choline transmembrane transporter activity	IBA	molecular function
GO:0015871	choline transport	IBA	biological process
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0055085	transmembrane transport	TAS	biological process
GO:0006656	phosphatidylcholine biosynthetic process	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	HMP	biological process
GO:0015871	choline transport	TAS	biological process
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0015220	choline transmembrane transporter activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05231	Choline metabolism in cancer

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq